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rs34218295

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs34218295(-;-)
Make rs34218295(-;GTG)
Make rs34218295(GTG;GTG)
ReferenceGRCh38 38.1/141
Chromosome11
Position5232994
GeneHBD
is asnp
is mentioned by
dbSNPrs34218295
ebirs34218295
HLIrs34218295
Exacrs34218295
Varsomers34218295
Maprs34218295
PheGenIrs34218295
hapmaprs34218295
1000 genomesrs34218295
hgdprs34218295
ensemblrs34218295
gopubmedrs34218295
geneviewrs34218295
scholarrs34218295
googlers34218295
pharmgkbrs34218295
gwascentralrs34218295
openSNPrs34218295
23andMers34218295
23andMe allrs34218295
SNP Nexus

SNPshotrs34218295
SNPdbers34218295
MSV3drs34218295
GWAS Ctlgrs34218295
Max Magnitude0
OMIM141900
Desc
Variant0157
Relatedalso


ClinVar
Risk rs34218295(GTGG,G;GTGG,G)
Alt rs34218295(GTGG,G;GTGG,G)
Reference rs34218295(TGG;TGG)
Significance Other
Disease HEMOGLOBIN LINCOLN PARK Hbb/hbd anti-lepore
Variation info
Gene HBD
CLNDBN HEMOGLOBIN LINCOLN PARK Hbb/hbd anti-lepore
Reversed 1
HGVS NC_000011.9:g.5254224_5254226delCAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000016453.1, RCV000016454.21,



[PMID 274735OA-icon.png] Hemoglobin Lincoln Park: a betadelta fusion (anti-Lepore) variant with an amino acid deletion in the delta chain-derived segment.


[PMID 753103] Unbalanced globin chain synthesis by Hb Lincoln Park (anti-Lepore) reticulocytes.